Canonical Allele Identifier: CA122918534

Gene: PCSK1

Linked Data

• dbSNP Id: rs954551499
• gnomAD v3: 5-96415839-T-G
• gnomAD v4: 5-96415839-T-G
• MyVariant Identifiers: chr5:g.95751543T>G (hg19) ; chr5:g.96415839T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96415839T>G , CM000667.2:g.96415839T>G	GRCh38
NC_000005.9:g.95751543T>G , CM000667.1:g.95751543T>G	GRCh37
NC_000005.8:g.95777299T>G	NCBI36
NG_021161.1:g.22443A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.709+194A>C MANE Select	ENSP00000308024.2:n.709+194A>C
ENST00000311106.7:c.709+194A>C	ENSP00000308024.2:n.709+194A>C
ENST00000508626.5:c.568+194A>C	ENSP00000421600.1:n.568+194A>C
NM_000439.4:c.709+194A>C	NP_000430.3:n.709+194A>C
NM_001177875.1:c.568+194A>C	NP_001171346.1:n.568+194A>C
NR_130776.1:n.354+36187T>G
NM_000439.5:c.709+194A>C MANE Select	NP_000430.3:n.709+194A>C
NM_001177875.2:c.568+194A>C	NP_001171346.1:n.568+194A>C